Combined oxidative phosphorylation deficiency 59
Summary
Clinical features
Help- Abnormal cellular phenotype
- Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex I
- MedGen UID: 393796
- Concept ID: C2677650
- Finding: Finding
Abnormal cellular phenotype
- Decreased activity of mitochondrial complex IV
Decreased activity of mitochondrial complex IV
- MedGen UID: 866520
- Concept ID: C4020800
- Finding: Finding
Abnormal cellular phenotype
- Decreased activity of the pyruvate dehydrogenase complex
Decreased activity of the pyruvate dehydrogenase complex
- MedGen UID: 326605
- Concept ID: C1839888
- Finding: Finding
Abnormal cellular phenotype
- Decreased activity of mitochondrial complex I
- Abnormality of metabolism/homeostasis
- Hyper-beta-alaninemia
Hyper-beta-alaninemia
- MedGen UID: 75702
- Concept ID: C0268630
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Increased circulating lactate concentration
Increased circulating lactate concentration
- MedGen UID: 332209
- Concept ID: C1836440
- Finding: Finding
Abnormality of metabolism/homeostasis
- Ketotic hypoglycemia
Ketotic hypoglycemia
- MedGen UID: 543512
- Concept ID: C0271713
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hyper-beta-alaninemia
- Abnormality of the cardiovascular system
- Congestive heart failure
Congestive heart failure
- MedGen UID: 9169
- Concept ID: C0018802
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy
- MedGen UID: 2881
- Concept ID: C0007194
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Severely reduced left ventricular ejection fraction
Severely reduced left ventricular ejection fraction
- MedGen UID: 868396
- Concept ID: C4022790
- Finding: Finding
Abnormality of the cardiovascular system
- Congestive heart failure
- Abnormality of the digestive system
- Cholelithiasis
Cholelithiasis
- MedGen UID: 3039
- Concept ID: C0008350
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Feeding difficulties
Feeding difficulties
- MedGen UID: 65429
- Concept ID: C0232466
- Finding: Finding
Abnormality of the digestive system
- Vomiting
Vomiting
- MedGen UID: 12124
- Concept ID: C0042963
- Finding: Sign or Symptom
Abnormality of the digestive system
- Cholelithiasis
- Abnormality of the eye
- Retinal degeneration
Retinal degeneration
- MedGen UID: 48432
- Concept ID: C0035304
- Finding: Finding
Abnormality of the eye
- Strabismus
Strabismus
- MedGen UID: 21337
- Concept ID: C0038379
- Finding: Disease or Syndrome
Abnormality of the eye
- Retinal degeneration
- Abnormality of the genitourinary system
- Dicarboxylic aciduria
Dicarboxylic aciduria
- MedGen UID: 343550
- Concept ID: C1856432
- Finding: Finding
Abnormality of the genitourinary system
- Dicarboxylic aciduria
- Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
- Abnormality of the nervous system
- Abnormal basal ganglia MRI signal intensity
Abnormal basal ganglia MRI signal intensity
- MedGen UID: 868351
- Concept ID: C4022745
- Finding: Anatomical Abnormality
Abnormality of the nervous system
- Apathy
Apathy
- MedGen UID: 39083
- Concept ID: C0085632
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder
- MedGen UID: 220387
- Concept ID: C1263846
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- CNS demyelination
CNS demyelination
- MedGen UID: 137898
- Concept ID: C0338474
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebral edema
Cerebral edema
- MedGen UID: 2337
- Concept ID: C0006114
- Finding: Pathologic Function
Abnormality of the nervous system
- Developmental regression
Developmental regression
- MedGen UID: 324613
- Concept ID: C1836830
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Elevated brain lactate level by MRS
Elevated brain lactate level by MRS
- MedGen UID: 868368
- Concept ID: C4022762
- Finding: Finding
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Migraine
Migraine
- MedGen UID: 57451
- Concept ID: C0149931
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Abnormal basal ganglia MRI signal intensity
- Abnormality of the respiratory system
- Apnea
Apnea
- MedGen UID: 2009
- Concept ID: C0003578
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Apnea
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Failure to thrive
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